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Can J Neurol Sci. 1998 Aug;25(3):192-6.

Identification of six novel SOD1 gene mutations in familial amyotrophic lateral sclerosis.

Author information

1
Centre for Research in Neuroscience, McGill University, Montreal, Canada.

Abstract

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by the premature death of motor neurons. In approximately 10% of the cases the disease is inherited as autosomal dominant trait (FALS). It has been found that mutations in the Cu/Zn superoxide dismutase gene (SOD1) are responsible for approximately 15% of FALS kindreds. We screened affected individuals from 70 unrelated FALS kindreds and identified 10 mutations, 6 of which are novel. Surprisingly, we have found a mutation in exon 3, which includes most of the active site loop and Zn2+ binding sites, a region where no previous SOD1 mutations have been found. Our data increase the number of different SOD1 mutations causing FALS to 55, a significant fraction of the 154 amino acids of this relatively small protein.

PMID:
9706719
DOI:
10.1017/s0317167100034004
[Indexed for MEDLINE]

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